Incidental Mutation 'R6339:Pla2g6'
ID |
513853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pla2g6
|
Ensembl Gene |
ENSMUSG00000042632 |
Gene Name |
phospholipase A2, group VI |
Synonyms |
iPLA2, iPLA2beta |
MMRRC Submission |
044493-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6339 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
79170428-79212590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79193016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 217
(N217I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047816]
[ENSMUST00000166977]
[ENSMUST00000172403]
[ENSMUST00000173109]
[ENSMUST00000173163]
[ENSMUST00000174021]
[ENSMUST00000173632]
|
AlphaFold |
P97819 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047816
AA Change: N217I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000044234 Gene: ENSMUSG00000042632 AA Change: N217I
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
ANK
|
185 |
215 |
4.6e0 |
SMART |
ANK
|
219 |
248 |
3.23e-4 |
SMART |
ANK
|
286 |
312 |
1.52e0 |
SMART |
ANK
|
316 |
345 |
6.46e-4 |
SMART |
ANK
|
349 |
378 |
2.02e-5 |
SMART |
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166977
AA Change: N217I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132071 Gene: ENSMUSG00000042632 AA Change: N217I
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
ANK
|
185 |
215 |
4.6e0 |
SMART |
ANK
|
219 |
248 |
3.23e-4 |
SMART |
ANK
|
286 |
312 |
1.52e0 |
SMART |
ANK
|
316 |
345 |
6.46e-4 |
SMART |
ANK
|
349 |
378 |
2.02e-5 |
SMART |
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172403
AA Change: N217I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131081 Gene: ENSMUSG00000042632 AA Change: N217I
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
ANK
|
185 |
215 |
4.6e0 |
SMART |
ANK
|
219 |
248 |
3.23e-4 |
SMART |
ANK
|
286 |
312 |
1.52e0 |
SMART |
ANK
|
316 |
345 |
6.46e-4 |
SMART |
ANK
|
349 |
378 |
2.02e-5 |
SMART |
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173109
|
SMART Domains |
Protein: ENSMUSP00000133554 Gene: ENSMUSG00000042632
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173163
AA Change: N217I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134456 Gene: ENSMUSG00000042632 AA Change: N217I
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
ANK
|
185 |
215 |
4.6e0 |
SMART |
ANK
|
219 |
248 |
3.23e-4 |
SMART |
ANK
|
286 |
312 |
1.52e0 |
SMART |
ANK
|
316 |
345 |
6.46e-4 |
SMART |
ANK
|
349 |
378 |
2.02e-5 |
SMART |
Pfam:Patatin
|
427 |
611 |
6.7e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173412
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174021
AA Change: N217I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134672 Gene: ENSMUSG00000042632 AA Change: N217I
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
ANK
|
185 |
215 |
4.6e0 |
SMART |
ANK
|
219 |
248 |
3.23e-4 |
SMART |
ANK
|
286 |
312 |
1.52e0 |
SMART |
ANK
|
316 |
345 |
6.46e-4 |
SMART |
ANK
|
349 |
378 |
2.02e-5 |
SMART |
Blast:ANK
|
382 |
411 |
2e-8 |
BLAST |
Pfam:Patatin
|
482 |
666 |
2.9e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173601
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173632
|
SMART Domains |
Protein: ENSMUSP00000133998 Gene: ENSMUSG00000042632
Domain | Start | End | E-Value | Type |
low complexity region
|
96 |
109 |
N/A |
INTRINSIC |
ANK
|
151 |
181 |
2.97e-3 |
SMART |
Blast:ANK
|
185 |
204 |
7e-6 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
Validation Efficiency |
97% (69/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010] PHENOTYPE: Homozygous null mice display impaired male fertility and asthenozoospermia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933424G06Rik |
A |
T |
1: 36,749,542 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
G |
T |
10: 14,310,091 (GRCm39) |
S743R |
probably damaging |
Het |
Ak8 |
A |
G |
2: 28,624,460 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,877 (GRCm39) |
M377T |
probably benign |
Het |
Ap1g1 |
G |
A |
8: 110,571,000 (GRCm39) |
V425I |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,066,188 (GRCm39) |
R4353W |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,839,423 (GRCm39) |
K540R |
probably benign |
Het |
B3galt2 |
A |
T |
1: 143,522,640 (GRCm39) |
T259S |
possibly damaging |
Het |
Btbd8 |
G |
A |
5: 107,651,583 (GRCm39) |
V159I |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,224,788 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
Ccdc171 |
A |
T |
4: 83,661,234 (GRCm39) |
T1115S |
probably damaging |
Het |
Chst2 |
C |
T |
9: 95,287,803 (GRCm39) |
G181D |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
Cpt1a |
A |
C |
19: 3,412,152 (GRCm39) |
D208A |
probably benign |
Het |
Crocc2 |
A |
G |
1: 93,141,754 (GRCm39) |
E1183G |
probably benign |
Het |
Defa39 |
G |
A |
8: 22,193,485 (GRCm39) |
S45F |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,208,128 (GRCm39) |
H1003L |
probably damaging |
Het |
Dok2 |
A |
T |
14: 71,013,158 (GRCm39) |
I109L |
probably benign |
Het |
Dpy19l4 |
A |
T |
4: 11,285,111 (GRCm39) |
I465K |
probably damaging |
Het |
Dync1h1 |
A |
T |
12: 110,612,639 (GRCm39) |
D2838V |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,644 (GRCm39) |
R646G |
possibly damaging |
Het |
Gcfc2 |
T |
A |
6: 81,923,477 (GRCm39) |
F514I |
probably damaging |
Het |
Gm8104 |
T |
C |
14: 42,958,942 (GRCm39) |
M44T |
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,750 (GRCm39) |
W334R |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,235,002 (GRCm39) |
F443I |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,413,927 (GRCm39) |
V1467A |
probably benign |
Het |
Ift172 |
A |
T |
5: 31,444,289 (GRCm39) |
D44E |
probably damaging |
Het |
Il1rl1 |
C |
T |
1: 40,501,016 (GRCm39) |
A464V |
possibly damaging |
Het |
Irx5 |
A |
G |
8: 93,086,481 (GRCm39) |
E188G |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,019,123 (GRCm39) |
V710A |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,359,693 (GRCm39) |
F228I |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,196,530 (GRCm39) |
N238S |
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,797,505 (GRCm39) |
H414Q |
probably damaging |
Het |
Mcpt8 |
A |
G |
14: 56,319,794 (GRCm39) |
C219R |
probably benign |
Het |
Mepce |
A |
T |
5: 137,783,950 (GRCm39) |
N125K |
possibly damaging |
Het |
Mfap3 |
T |
C |
11: 57,420,598 (GRCm39) |
F193S |
probably damaging |
Het |
Miox |
T |
A |
15: 89,219,702 (GRCm39) |
Y63* |
probably null |
Het |
Msl2 |
A |
T |
9: 100,978,949 (GRCm39) |
H441L |
probably benign |
Het |
Nemp2 |
T |
A |
1: 52,680,069 (GRCm39) |
S98T |
possibly damaging |
Het |
Neto2 |
G |
T |
8: 86,367,187 (GRCm39) |
A547E |
probably benign |
Het |
Nol12 |
T |
C |
15: 78,825,033 (GRCm39) |
|
probably benign |
Het |
Npr3 |
T |
C |
15: 11,845,361 (GRCm39) |
I504V |
probably damaging |
Het |
Or4c106 |
A |
G |
2: 88,683,215 (GRCm39) |
D307G |
probably null |
Het |
Pcdhb3 |
T |
C |
18: 37,433,998 (GRCm39) |
|
probably benign |
Het |
Pear1 |
C |
A |
3: 87,659,827 (GRCm39) |
G720W |
probably damaging |
Het |
Pibf1 |
T |
G |
14: 99,344,834 (GRCm39) |
D151E |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
Plcl1 |
C |
T |
1: 55,735,474 (GRCm39) |
L272F |
probably damaging |
Het |
Ppp4r4 |
A |
T |
12: 103,571,228 (GRCm39) |
K656* |
probably null |
Het |
Prr22 |
G |
A |
17: 57,078,490 (GRCm39) |
M214I |
probably benign |
Het |
Ror1 |
G |
T |
4: 100,269,128 (GRCm39) |
R322L |
possibly damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,108,642 (GRCm39) |
W244* |
probably null |
Het |
Slamf6 |
A |
G |
1: 171,775,615 (GRCm39) |
N320S |
probably null |
Het |
Slc1a6 |
A |
C |
10: 78,635,919 (GRCm39) |
D328A |
possibly damaging |
Het |
Sorl1 |
G |
T |
9: 41,881,038 (GRCm39) |
T2161K |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,721,586 (GRCm39) |
D1198V |
probably benign |
Het |
Sstr2 |
T |
C |
11: 113,515,375 (GRCm39) |
F98S |
probably damaging |
Het |
Stk33 |
A |
T |
7: 108,920,672 (GRCm39) |
D348E |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,908,664 (GRCm39) |
L559Q |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,035,927 (GRCm39) |
D3738G |
probably benign |
Het |
Taok3 |
A |
T |
5: 117,366,095 (GRCm39) |
Q382L |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,192,178 (GRCm39) |
H752L |
possibly damaging |
Het |
Tia1 |
A |
C |
6: 86,403,638 (GRCm39) |
K285T |
probably damaging |
Het |
Tle3 |
G |
T |
9: 61,309,206 (GRCm39) |
|
probably null |
Het |
Top1mt |
T |
C |
15: 75,537,505 (GRCm39) |
T414A |
possibly damaging |
Het |
Ubc |
A |
T |
5: 125,464,406 (GRCm39) |
I307N |
probably damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,804,124 (GRCm39) |
D266V |
possibly damaging |
Het |
Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
Zfp456 |
T |
A |
13: 67,510,483 (GRCm39) |
K102* |
probably null |
Het |
Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
probably damaging |
Het |
|
Other mutations in Pla2g6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Pla2g6
|
APN |
15 |
79,173,441 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00906:Pla2g6
|
APN |
15 |
79,171,947 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01432:Pla2g6
|
APN |
15 |
79,202,168 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL01640:Pla2g6
|
APN |
15 |
79,188,513 (GRCm39) |
missense |
probably benign |
|
IGL01715:Pla2g6
|
APN |
15 |
79,202,057 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01943:Pla2g6
|
APN |
15 |
79,197,316 (GRCm39) |
missense |
probably null |
0.00 |
IGL02551:Pla2g6
|
APN |
15 |
79,183,294 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03120:Pla2g6
|
APN |
15 |
79,171,060 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03193:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03194:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03205:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03289:Pla2g6
|
APN |
15 |
79,201,985 (GRCm39) |
missense |
probably damaging |
0.98 |
R0288:Pla2g6
|
UTSW |
15 |
79,171,106 (GRCm39) |
splice site |
probably benign |
|
R0631:Pla2g6
|
UTSW |
15 |
79,190,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1216:Pla2g6
|
UTSW |
15 |
79,190,635 (GRCm39) |
missense |
probably benign |
0.18 |
R1617:Pla2g6
|
UTSW |
15 |
79,173,341 (GRCm39) |
missense |
probably benign |
0.03 |
R1785:Pla2g6
|
UTSW |
15 |
79,190,545 (GRCm39) |
missense |
probably benign |
0.02 |
R2025:Pla2g6
|
UTSW |
15 |
79,170,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R2079:Pla2g6
|
UTSW |
15 |
79,197,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R3952:Pla2g6
|
UTSW |
15 |
79,197,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Pla2g6
|
UTSW |
15 |
79,171,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R4826:Pla2g6
|
UTSW |
15 |
79,192,879 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5093:Pla2g6
|
UTSW |
15 |
79,171,328 (GRCm39) |
missense |
probably benign |
0.12 |
R5327:Pla2g6
|
UTSW |
15 |
79,186,837 (GRCm39) |
missense |
probably benign |
0.03 |
R5390:Pla2g6
|
UTSW |
15 |
79,173,893 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5419:Pla2g6
|
UTSW |
15 |
79,183,342 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5432:Pla2g6
|
UTSW |
15 |
79,186,817 (GRCm39) |
critical splice donor site |
probably null |
|
R5633:Pla2g6
|
UTSW |
15 |
79,183,342 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5829:Pla2g6
|
UTSW |
15 |
79,171,893 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5930:Pla2g6
|
UTSW |
15 |
79,187,728 (GRCm39) |
intron |
probably benign |
|
R6228:Pla2g6
|
UTSW |
15 |
79,189,924 (GRCm39) |
missense |
probably benign |
0.00 |
R6241:Pla2g6
|
UTSW |
15 |
79,188,592 (GRCm39) |
missense |
probably benign |
0.02 |
R6485:Pla2g6
|
UTSW |
15 |
79,191,572 (GRCm39) |
missense |
probably benign |
0.00 |
R6754:Pla2g6
|
UTSW |
15 |
79,190,510 (GRCm39) |
missense |
probably benign |
0.01 |
R7419:Pla2g6
|
UTSW |
15 |
79,189,898 (GRCm39) |
splice site |
probably null |
|
R7425:Pla2g6
|
UTSW |
15 |
79,192,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7710:Pla2g6
|
UTSW |
15 |
79,171,358 (GRCm39) |
missense |
probably damaging |
0.98 |
R7738:Pla2g6
|
UTSW |
15 |
79,181,633 (GRCm39) |
nonsense |
probably null |
|
R7768:Pla2g6
|
UTSW |
15 |
79,181,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R7796:Pla2g6
|
UTSW |
15 |
79,202,025 (GRCm39) |
missense |
probably benign |
0.32 |
R8184:Pla2g6
|
UTSW |
15 |
79,171,322 (GRCm39) |
missense |
probably benign |
0.02 |
R8359:Pla2g6
|
UTSW |
15 |
79,171,370 (GRCm39) |
missense |
probably damaging |
0.98 |
R9105:Pla2g6
|
UTSW |
15 |
79,183,397 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9280:Pla2g6
|
UTSW |
15 |
79,197,314 (GRCm39) |
missense |
probably benign |
0.09 |
R9471:Pla2g6
|
UTSW |
15 |
79,202,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AACACTTGGTGTGAAGCCACC -3'
(R):5'- CTGGTCAGCCATTCTTACAATC -3'
Sequencing Primer
(F):5'- TTGGTGTGAAGCCACCACATAAC -3'
(R):5'- GTCAGCCATTCTTACAATCTCCAGAG -3'
|
Posted On |
2018-04-27 |